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Lehrstuhl für Humangenetik
Friedrich-Alexander-Universität Erlangen-Nürnberg
Medizinische Fakultät
Einrichtungen, die zum Universitätsklinikum Erlangen gehören
Institute of Human Genetics
Overview
Publications
(506)
Research Grants
(9)
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Journal article
Journal article
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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019)
Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al.
Journal article, Erratum
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018) (2019)
Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al.
Journal article, Erratum
Artificial light at night affects brain plasticity and melatonin in birds (2019)
Moaraf S, Vistoropsky Y, Pozner T, Heiblum R, Okuliarová M, Zeman M, Barnea A
Journal article
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy (2019)
Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al.
Journal article
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019)
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, et al.
Journal article
STAT3 activation through IL-6/IL-11 in cancer-associated fibroblasts promotes colorectal tumour development and correlates with poor prognosis (2019)
Heichler C, Scheibe K, Schmied A, Geppert CI, Schmid B, Wirtz S, Thoma OM, et al.
Journal article
Diagnostics of rare diseases with next generation sequencing—arrived at the patients or rejected? Diagnostik seltener Erkrankungen mit „next generation sequencing“ – angekommen oder abgewehrt? (2019)
Abicht A, Neuhann T, Mehnert L, Rost I, Wiesmann da Silva Reis A, Zweier C, Holinski-Feder E
Journal article, Review article
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019)
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, et al.
Journal article
Genetic predictors of chemotherapy-related amenorrhea in women with breast cancer (2019)
Ruddy KJ, Schaid DJ, Partridge AH, Larson NB, Batzler A, Häberle L, Dittrich R, et al.
Journal article
Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders (2019)
Fenckova M, Blok LE, Asztalos L, Goodman DP, Cizek P, Singgih EL, Glennon JC, et al.
Journal article
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